Genetic immune escape landscape in primary and metastatic cancer

Genome; Tumour immunology

Detalles Bibliográficos
Autores: Martínez-Jiménez, Francisco, Priestley, Peter, Shale, Charles, Baber, Jonathan, Rozemuller, Erik, Cuppen, Edwin
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Departament de Salut de la Generalitat de Catalunya (DS)
Repositorio:Scientia. Dipòsit d'Informació Digital del Departament de Salut
OAI Identifier:oai:scientiasalut.gencat.cat:11351/9954
Acceso en línea:https://hdl.handle.net/11351/9954
Access Level:acceso abierto
Palabra clave:Càncer - Aspectes genètics
Anomalies cromosòmiques
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
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spelling Genetic immune escape landscape in primary and metastatic cancerMartínez-Jiménez, FranciscoPriestley, PeterShale, CharlesBaber, JonathanRozemuller, ErikCuppen, EdwinCàncer - Aspectes genèticsAnomalies cromosòmiquesDISEASES::NeoplasmsOther subheadings::Other subheadings::Other subheadings::/geneticsPHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::MutationENFERMEDADES::neoplasiasOtros calificadores::Otros calificadores::Otros calificadores::/genéticaFENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutaciónGenome; Tumour immunologyGenoma; Inmunología tumoralGenoma; Immunologia tumoralStudies have characterized the immune escape landscape across primary tumors. However, whether late-stage metastatic tumors present differences in genetic immune escape (GIE) prevalence and dynamics remains unclear. We performed a pan-cancer characterization of GIE prevalence across six immune escape pathways in 6,319 uniformly processed tumor samples. To address the complexity of the HLA-I locus in the germline and in tumors, we developed LILAC, an open-source integrative framework. One in four tumors harbors GIE alterations, with high mechanistic and frequency variability across cancer types. GIE prevalence is generally consistent between primary and metastatic tumors. We reveal that GIE alterations are selected for in tumor evolution and focal loss of heterozygosity of HLA-I tends to eliminate the HLA allele, presenting the largest neoepitope repertoire. Finally, high mutational burden tumors showed a tendency toward focal loss of heterozygosity of HLA-I as the immune evasion mechanism, whereas, in hypermutated tumors, other immune evasion strategies prevail.Nature PortfolioInstitut Català de la Salut[Martínez-Jiménez F] Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, the Netherlands. Hartwig Medical Foundation, Amsterdam, the Netherlands. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Priestley P, Shale C, Baber J] Hartwig Medical Foundation Australia, Sydney, New South Wales, Australia. [Rozemuller E] GenDx, Utrecht, the Netherlands. [Cuppen E] Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, the Netherlands. Hartwig Medical Foundation, Amsterdam, the NetherlandsVall d'Hebron Barcelona Hospital Campus202320232023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11351/9954Scientiareponame:Scientia. Dipòsit d'Informació Digital del Departament de Salutinstname:Departament de Salut de la Generalitat de Catalunya (DS)InglésNature Genetics;55https://doi.org/10.1038/s41588-023-01367-1Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:scientiasalut.gencat.cat:11351/99542026-06-12T09:38:37Z
dc.title.none.fl_str_mv Genetic immune escape landscape in primary and metastatic cancer
title Genetic immune escape landscape in primary and metastatic cancer
spellingShingle Genetic immune escape landscape in primary and metastatic cancer
Martínez-Jiménez, Francisco
Càncer - Aspectes genètics
Anomalies cromosòmiques
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
title_short Genetic immune escape landscape in primary and metastatic cancer
title_full Genetic immune escape landscape in primary and metastatic cancer
title_fullStr Genetic immune escape landscape in primary and metastatic cancer
title_full_unstemmed Genetic immune escape landscape in primary and metastatic cancer
title_sort Genetic immune escape landscape in primary and metastatic cancer
dc.creator.none.fl_str_mv Martínez-Jiménez, Francisco
Priestley, Peter
Shale, Charles
Baber, Jonathan
Rozemuller, Erik
Cuppen, Edwin
author Martínez-Jiménez, Francisco
author_facet Martínez-Jiménez, Francisco
Priestley, Peter
Shale, Charles
Baber, Jonathan
Rozemuller, Erik
Cuppen, Edwin
author_role author
author2 Priestley, Peter
Shale, Charles
Baber, Jonathan
Rozemuller, Erik
Cuppen, Edwin
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Martínez-Jiménez F] Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, the Netherlands. Hartwig Medical Foundation, Amsterdam, the Netherlands. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Priestley P, Shale C, Baber J] Hartwig Medical Foundation Australia, Sydney, New South Wales, Australia. [Rozemuller E] GenDx, Utrecht, the Netherlands. [Cuppen E] Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, the Netherlands. Hartwig Medical Foundation, Amsterdam, the Netherlands
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Càncer - Aspectes genètics
Anomalies cromosòmiques
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
topic Càncer - Aspectes genètics
Anomalies cromosòmiques
DISEASES::Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
ENFERMEDADES::neoplasias
Otros calificadores::Otros calificadores::Otros calificadores::/genética
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
description Genome; Tumour immunology
publishDate 2023
dc.date.none.fl_str_mv 2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/9954
url https://hdl.handle.net/11351/9954
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Nature Genetics;55
https://doi.org/10.1038/s41588-023-01367-1
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Nature Portfolio
publisher.none.fl_str_mv Nature Portfolio
dc.source.none.fl_str_mv Scientia
reponame:Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname:Departament de Salut de la Generalitat de Catalunya (DS)
instname_str Departament de Salut de la Generalitat de Catalunya (DS)
reponame_str Scientia. Dipòsit d'Informació Digital del Departament de Salut
collection Scientia. Dipòsit d'Informació Digital del Departament de Salut
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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